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Results 1 - 10 of 62 for Coloboma
  1. Renal coloboma syndrome 
    Renal coloboma syndrome (also known as papillorenal syndrome) is a condition that primarily affects kidney (renal) and eye development. People with this condition ...
    https://medlineplus.gov/genetics/condition/renal-coloboma-syndrome - Genetics
  2. Coloboma 
    Coloboma is an eye abnormality that occurs before birth. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or ...
    https://medlineplus.gov/genetics/condition/coloboma - Genetics
  3. Baraitser-Winter syndrome 
    ... frontofacial syndrome, type 3 Fryns-Aftimos syndrome Iris coloboma with ptosis, hypertelorism, and mental retardation Genetic Testing ... 2; BRWS2 PubMed Baraitser M, Winter RM. Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome. ...
    https://medlineplus.gov/genetics/condition/baraitser-winter-syndrome - Genetics
  4. Microphthalmia 
    ... with microphthalmia may also have a condition called coloboma. Colobomas are missing pieces of tissue in structures that ... carry information from the eyes to the brain. Colobomas may be present in one or both eyes ...
    https://medlineplus.gov/genetics/condition/microphthalmia - Genetics
  5. PAX2 gene 
    ... PAX2 gene have been found to cause renal coloboma syndrome. Most variants are specific to each affected ... development, causing the signs and symptoms of renal coloboma syndrome. More About This Health Condition MedlinePlus Genetics ...
    https://medlineplus.gov/genetics/gene/pax2 - Genetics
  6. PAX6 gene 
    ... PAX6 gene can cause an eye problem called coloboma, in which there is a gap or split ... a transcription factor.In addition to microphthalmia or coloboma (described above), individuals with these relatively mild PAX6 ...
    https://medlineplus.gov/genetics/gene/pax6 - Genetics
  7. CHARGE syndrome 
    ... several of the features common in the disorder: coloboma, heart defects, atresia choanae (also known as choanal ... in one of the structures of the eye (coloboma), which forms during early development. A coloboma may ...
    https://medlineplus.gov/genetics/condition/charge-syndrome - Genetics
  8. Manitoba oculotrichoanal syndrome 
    ... notched or partially absent upper eyelid (upper eyelid coloboma), eyelids that are attached to the front surface ... AE. New familial syndrome of unilateral upper eyelid coloboma, aberrant anterior hairline pattern, and anal anomalies in ...
    https://medlineplus.gov/.../manitoba-oculotrichoanal-syndrome - Genetics
  9. CHD7 gene 
    ... several of the features common in the disorder: coloboma, heart defect, atresia choanae (also known as choanal ... This Health Condition MedlinePlus Genetics provides information about Coloboma More About This Health Condition CHD7_HUMAN FLJ20357 ...
    https://medlineplus.gov/genetics/gene/chd7 - Genetics
  10. OTX2 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Coloboma More About This Health Condition MedlinePlus Genetics provides ... and whole gene deletions in anophthalmia, microphthalmia and coloboma. Hum Mutat. 2008 Nov;29(11):E278-83. ...
    https://medlineplus.gov/genetics/gene/otx2 - Genetics
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